Identification of Novel Mutations of the <i>DAX-1</i> Gene in Patients with X-Linked Adrenal Hypoplasia Congenita

Abstract

Two novel mutations of DAX-1 were detected in 2 unrelated patients with AHC, and complete deletion of DAX-1 in a patient with Xp21 contiguous gene syndrome who also presented with glycerol kinase deficiency, Duchenne muscular dystrophy, and AHC.